Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

ABSTRACT:

Background

Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases.

Objective

To describe the sensitivity of the criteria when applied to families with a demonstrated MMR mutation.

Methods

Families with an aggregation of colorectal cancers were examined for deleterious MMR mutations according to the Mallorca guidelines. All families with a detected MMR mutation as of November 2009 were reclassified according to the Amsterdam and Bethesda criteria.

SUBMITTER: Sjursen W 

PROVIDER: S-EPMC2976029 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature